Association of EX 7 (V281L) mutation in CYP21A2 gene with HLA haplotypes in Croatia

Zvečić, Sabina (2015) Association of EX 7 (V281L) mutation in CYP21A2 gene with HLA haplotypes in Croatia. Diploma thesis, Faculty of Science > Department of Biology.

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Abstract

This study represents the frequency analysis of the CYP21A2 gene mutation located in the exon 7 (V281L). Analysis was preformed in the group of healthy subjects who carried one or a combination of the following alleles: A*33:01, B*14:02, DRB1*01:02, DRB1*03:01 (N=177), as well as within a group of subjects who did not carry any of the above mentioned HLA alleles (N=40). The presence/absence of the CYP21A2 Ex7 V281L mutation was determined for all subjects using the polymerase chain reaction and primers specific for wild type/mutant allele. The CYP21A2 gene Ex7 V281L mutation has shown very significant association (p<0,0001) with B*14:02 allele, HLA-B*14:02-DRB1*01:02 haplotype, HLAA* 33:01-B*14:02 haplotype and HLA-A*33:01-B*14:02-DRB1*01:02 haplotype. The CYP21A2 gene Ex7 V281L mutation was not significantly more present among subjects who carried HLA-B*14:02-DRB1*03:01 haplotype (p>0,05), while the subjects positive for the HLA-A*33:01-B*14:02-DRB1*03:01 haplotype had a significantly higher probability of carrying the analysed mutation as well (p=0,0040).

Item Type: Thesis (Diploma thesis)
Keywords: HLA genes, CYP21A2 gene, B*14:02, HLA haplotypes, population investigations
Supervisor: Grubić, Zorana
Co-supervisor: Galov, Ana
Date: 2015
Number of Pages: 57
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 09 Mar 2016 12:47
Last Modified: 09 Mar 2016 12:47
URI: http://digre.pmf.unizg.hr/id/eprint/4566

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